Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ROU
|
0
|
3
|
No
|
Intellectual developmental disorder
Dystonia/Parkinsonism Tremor (any or unspecified) Rigidity Parkinsonism Postural instability Hypotonia Short stature Decreased body weight Myoclonus Bradykinesia Dystonia, segmental/multifocal Lower limb dystonia Dystonia, limb Developmental regression Tremor, action Cognitive impairment Dystonia (any or unspecified) Delayed motor development Upper limb dystonia Developmental delay Show more (+18) |
Myoclonus
Developmental delay |